T13S (p.Thr13Ser) variant of DSP (Desmoplakin)
T13S (p.Thr13Ser) in DSP (Desmoplakin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
T13S (p.Thr13Ser) variant details
- p.Thr13Ser
- gnomAD 6-7541949-AAC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.522
- CADD 27.50
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available